Previous HGNC Symbols for HGSNAT Gene

Previous GeneCards Identifiers for HGSNAT Gene

Summaries for HGSNAT Gene

Entrez Gene Summary for HGSNAT Gene

This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]

UniProtKB/Swiss-Prot for HGSNAT Gene

Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase.

miRNA for HGSNAT Gene

Localization for HGSNAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for HGSNAT Gene

Lysosome membrane; Multi-pass membrane protein. Note=Colocalizes with the lysosomal marker LAMP2. The signal peptide is not cleaved upon translocation into the endoplasmic reticulum; the precursor is probably targeted to the lysosomes via the adapter protein complex-mediated pathway that involves tyrosine- and/or dileucine-based conserved amino acid motifs in the last C-terminus 16-amino acid domain.

UniProtKB/Swiss-Prot

Mucopolysaccharidosis 3C (MPS3C) [MIM:252930]: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. {ECO:0000269 PubMed:16960811, ECO:0000269 PubMed:17033958, ECO:0000269 PubMed:17397050, ECO:0000269 PubMed:18024218, ECO:0000269 PubMed:19479962}. Note=The disease is caused by mutations affecting the gene represented in this entry.